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Article: DNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography

TitleDNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatography
Authors
Issue Date2002
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Citation
Molecular Genetics And Metabolism, 2002, v. 75 n. 1, p. 91-95 How to Cite?
AbstractIsolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy. There is a special demand for prenatal diagnosis, since no effective treatment is available for isolated sulfite oxidase deficiency. Until now, the cDNA sequence of the sulfite oxidase (SUOX) gene has been available, but the genomic sequence of the SUOX gene has not been published. In this study, we have performed a DNA-based diagnosis of isolated sulfite oxidase deficiency in a Chinese patient. To do so, we designed oligonucleotide primers for amplification of the predicted exons and intron-exon boundaries of the SUOX gene obtained from the completed draft version of the human genome. Using overlapping PCR products, we confirmed the flanking intronic sequences of the coding exons and that the entire 466-residue mature peptide is encoded by the last exon of the gene. We then performed mutation detection using denaturing high-performance liquid chromatography (DHPLC). The DHPLC chromatogram of exon 2b showed the presence of heteroduplex peaks only after mixing of the mutant DNA with the wild-type DNA, indicating the presence of a homozygous mutation. Direct DNA sequencing showed a homozygous base substitution at codon 160, changing the codon from CGG to CAG, which changes the amino acid from arginine to glutamine, i.e., R160Q. The DNA-based diagnosis of isolated sulfite oxidase deficiency will enable us to make an accurate determination of carrier status and to perform prenatal diagnosis of this disease. The availability of the genomic sequences of human genes from the completed draft human genome sequence will simplify the development of molecular genetic diagnoses of human diseases from peripheral blood DNA. © 2002 Elsevier Science (USA).
Persistent Identifierhttp://hdl.handle.net/10722/148281
ISSN
2015 Impact Factor: 3.093
2015 SCImago Journal Rankings: 1.520
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorLi, CKen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorNg, GSFen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorCheng, AWFen_US
dc.contributor.authorChan, YWen_US
dc.date.accessioned2012-05-29T06:11:58Z-
dc.date.available2012-05-29T06:11:58Z-
dc.date.issued2002en_US
dc.identifier.citationMolecular Genetics And Metabolism, 2002, v. 75 n. 1, p. 91-95en_US
dc.identifier.issn1096-7192en_US
dc.identifier.urihttp://hdl.handle.net/10722/148281-
dc.description.abstractIsolated sulfite oxidase deficiency is a rare autosomal recessive disease, characterized by severe neurological abnormalities, seizures, mental retardation, and dislocation of the ocular lenses, that often leads to death in infancy. There is a special demand for prenatal diagnosis, since no effective treatment is available for isolated sulfite oxidase deficiency. Until now, the cDNA sequence of the sulfite oxidase (SUOX) gene has been available, but the genomic sequence of the SUOX gene has not been published. In this study, we have performed a DNA-based diagnosis of isolated sulfite oxidase deficiency in a Chinese patient. To do so, we designed oligonucleotide primers for amplification of the predicted exons and intron-exon boundaries of the SUOX gene obtained from the completed draft version of the human genome. Using overlapping PCR products, we confirmed the flanking intronic sequences of the coding exons and that the entire 466-residue mature peptide is encoded by the last exon of the gene. We then performed mutation detection using denaturing high-performance liquid chromatography (DHPLC). The DHPLC chromatogram of exon 2b showed the presence of heteroduplex peaks only after mixing of the mutant DNA with the wild-type DNA, indicating the presence of a homozygous mutation. Direct DNA sequencing showed a homozygous base substitution at codon 160, changing the codon from CGG to CAG, which changes the amino acid from arginine to glutamine, i.e., R160Q. The DNA-based diagnosis of isolated sulfite oxidase deficiency will enable us to make an accurate determination of carrier status and to perform prenatal diagnosis of this disease. The availability of the genomic sequences of human genes from the completed draft human genome sequence will simplify the development of molecular genetic diagnoses of human diseases from peripheral blood DNA. © 2002 Elsevier Science (USA).en_US
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgmeen_US
dc.relation.ispartofMolecular Genetics and Metabolismen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChinaen_US
dc.subject.meshChromatography, High Pressure Liquiden_US
dc.subject.meshDna, Complementary - Analysis - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshOxidoreductases Acting On Sulfur Group Donors - Deficiency - Geneticsen_US
dc.titleDNA-based diagnosis of isolated sulfite oxidase deficiency by denaturing high-performance liquid chromatographyen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1006/mgme.2001.3267en_US
dc.identifier.pmid11825068-
dc.identifier.scopuseid_2-s2.0-0036353260en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036353260&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume75en_US
dc.identifier.issue1en_US
dc.identifier.spage91en_US
dc.identifier.epage95en_US
dc.identifier.isiWOS:000173752000010-
dc.publisher.placeUnited Statesen_US

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